脑肌酸缺乏症诊断与治疗研究进展

doi:10.3877/cma.j.issn.2095-655X.2024.04.011

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摘要脑肌酸缺乏症是一种影响肌酸合成和转运的遗传代谢性疾病，分为3种亚型：肌酸转运体缺乏症、胍基乙酸甲基转移酶（GAMT）缺乏症和精氨酸甘氨酸脒基转移酶缺乏症。脑肌酸缺乏症临床症状多样，主要累及中枢神经系统，包括发育迟缓、运动障碍、行为问题，以及儿童早发性癫痫。该病典型影像学特征是脑磁共振波谱中肌酸峰的缺乏。分子遗传检测对确诊具有重要意义，GAMT基因或GATM基因的双等位致病性变异，以及SLC6A8基因在男性中的半合子致病性变异和在少数女性中的杂合子变异，均可导致脑肌酸缺乏症。目前，3种疾病亚型均采用肌酸补充治疗。然而，肌酸转运体缺乏症的治疗还应联合精氨酸和甘氨酸补充；而GAMT缺乏症的治疗则需要补充鸟氨酸和限制精氨酸摄入。

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关键词 ：脑肌酸缺乏症, 发育障碍, 基因检测, 药物治疗

Abstract：Cerebral creatine deficiency syndromes are inherited metabolic errors in creatine synthesis and transport, which are divided into creatine transporter deficiency，guanidinoacetate methyltransferase (GAMT) deficiency, and L-arginine-glycine amidinotransferase deficiency. Patients with cerebral creatine deficiency syndromes present a wide range of symptoms, including developmental delay, movement disorder, behavioral problems and early-onset epilepsy in childhood. The typical imaging feature of this disease is the deficiency of creatine peaks in brain proton magnetic resonance spectroscopy. The molecular genetic detection is important for the definitive diagnosis. Biallelic pathogenic variants in GAMT or GATM, as well as hemizygous pathogenic variants in males and heterozygous pathogenic variants in a few females in SLC6A8 can result in cerebral creatine deficiency syndrome. While all 3 types of disorders are currently treated with creatine supplementation, creatine transporter deficiency is also treated with arginine and glycine supplementation and GAMT deficiency is treated with ornithine supplementation and arginine-restricted diet.

Key words： Cerebral creatine deficiency syndrome Developmental disabilities Genetic testing Drug theraphy

收稿日期: 2024-04-23

通讯作者: 盛志强， Email: zhiqiangsheng@163.com

引用本文:

张成惠闫中瑞盛志强袁嫣然. 脑肌酸缺乏症诊断与治疗研究进展[J]. 中华诊断学电子杂志, 2024, 12(4): 270-275.
Zhang Chenghui1, Yan Zhongrui2, Sheng Zhiqiang1, Yuan Yanran1. . Research advances in the diagnosis and treatment of the cerebral creatine deficiency syndrome. zhzdx, 2024, 12(4): 270-275.

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